ClinVar Miner

List of variants in gene FKTN reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NM_001079802.1(FKTN):c.*4825T>C rs115155934
NM_001079802.1(FKTN):c.-108A>T rs191502146
NM_001079802.1(FKTN):c.-191_-191delT rs138776494
NM_001079802.1(FKTN):c.-77A>G rs188804693
NM_001079802.1(FKTN):c.-88-6T>C rs115730708
NM_001079802.1(FKTN):c.-90delA rs727502845
NM_001079802.1(FKTN):c.-96T>C rs151250905
NM_001079802.1(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354
NM_001079802.1(FKTN):c.102A>C (p.Thr34=) rs138740640
NM_001079802.1(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_001079802.1(FKTN):c.106-10G>A rs148384394
NM_001079802.1(FKTN):c.106-18C>T rs748663594
NM_001079802.1(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.1(FKTN):c.1167dupA (p.Phe390Ilefs) rs398123555
NM_001079802.1(FKTN):c.1172+13T>C rs768792475
NM_001079802.1(FKTN):c.1176C>G (p.Tyr392Ter)
NM_001079802.1(FKTN):c.1181T>C (p.Phe394Ser) rs727502849
NM_001079802.1(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.1(FKTN):c.1195C>T (p.Leu399=) rs768867435
NM_001079802.1(FKTN):c.1215_1226delAGACATGAAGGT (p.Asp406_Val409del) rs1554766855
NM_001079802.1(FKTN):c.1248C>T (p.Leu416=) rs774804160
NM_001079802.1(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_001079802.1(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.1(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.1(FKTN):c.1371_1381dupTATCCAGTTAT (p.Tyr461Leufs) rs727502847
NM_001079802.1(FKTN):c.154A>G (p.Ser52Gly) rs1064796459
NM_001079802.1(FKTN):c.166-12T>A rs1419099088
NM_001079802.1(FKTN):c.166-6A>G rs41277795
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.1(FKTN):c.198C>G (p.Ser66=) rs367868644
NM_001079802.1(FKTN):c.21C>T (p.Asn7=) rs564632018
NM_001079802.1(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.1(FKTN):c.25G>T (p.Val9Phe) rs145387221
NM_001079802.1(FKTN):c.285T>C (p.His95=) rs148046151
NM_001079802.1(FKTN):c.357A>G (p.Leu119=) rs760933616
NM_001079802.1(FKTN):c.360G>A (p.Trp120Ter)
NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.1(FKTN):c.42G>A (p.Thr14=) rs78794935
NM_001079802.1(FKTN):c.439C>A (p.Leu147Ile) rs727502846
NM_001079802.1(FKTN):c.456_457delAC (p.Ser154Trpfs) rs760731888
NM_001079802.1(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.1(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.1(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_001079802.1(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.1(FKTN):c.642dupT (p.Asp215Terfs) rs398123557
NM_001079802.1(FKTN):c.647+12G>A rs372589966
NM_001079802.1(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.1(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.1(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_001079802.1(FKTN):c.706A>G (p.Met236Val) rs886042241
NM_001079802.1(FKTN):c.756T>A (p.Tyr252Ter)
NM_001079802.1(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.1(FKTN):c.781-9T>C rs370564232
NM_001079802.1(FKTN):c.82_84delTAC (p.Tyr28del) rs1554731028
NM_001079802.1(FKTN):c.855G>A (p.Ala285=) rs1057521448
NM_001079802.1(FKTN):c.867C>T (p.Asn289=) rs1554757882
NM_001079802.1(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_001079802.1(FKTN):c.910+13C>T rs375259473
NM_001079802.1(FKTN):c.910+14G>A rs76180538
NM_001079802.1(FKTN):c.910+19T>G rs771773538
NM_001079802.1(FKTN):c.911-13A>G rs766103012
NM_001079802.1(FKTN):c.911-8C>A rs749557617
NM_001079802.1(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006731.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.911-18dup rs757992747

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